Cockayne Syndrome Diseases Database

Description: Cockayne syndrome may cause or feature - Miscellaneous syndromes Leucodystrophy Symptoms and Signs Ataxia Microcephaly Peripheral neuropathy Photosensitivity of skin Premature aging Retinal pathology Sensorineural hearing loss Short stature X-ray abnormalities Intracranial calcification Psychiatric conditions Learning disability may be associated with -Congenital conditions Tricho-thiodystrophy Xeroderma pigmentosum Belongs in the category of Autosomal recessive conditions Cockayne syndrome: Definition(s) via UMLS.....Code translations and terms via UMLS. "A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms." Source: Medical Subject Headings, 2006_2006_02_06 "A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms." Source: Medical Subject Headings, 2006_2006_02_06 Cockayne syndrome: specific web sites.